CXCL12 — 50 ClinVar variants
All ClinVar germline CXCL12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
23 Benign · 6 Likely benign · 21 Uncertain significance
Full CXCL12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CXCL12 p.Ala15Val Uncertain significance Single submitter
- CXCL12 p.Ala56Asp Uncertain significance Single submitter
- CXCL12 p.Leu16Phe Uncertain significance Single submitter
- CXCL12 p.Leu18Pro Uncertain significance Single submitter
- CXCL12 p.Leu18Val Uncertain significance Single submitter
- CXCL12 p.Leu9Val Uncertain significance Single submitter
- CXCL12 p.Thr52Ala Uncertain significance Single submitter
- CXCL12 p.Val24Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CXCL12 variants
Benign 23
- c.179+329G>C Multiple submitters
- c.180-45C>T Multiple submitters
- c.180-82G>A Multiple submitters
- c.266+2537C>T Multiple submitters
- c.267-2555C>T Multiple submitters
- c.267-65T>G Multiple submitters
- c.267-73G>A Multiple submitters
- c.61+112G>A Multiple submitters
- c.61+133A>G Multiple submitters
- c.61+17G>A Multiple submitters
- c.61+186G>C Multiple submitters
- c.62-127A>T Multiple submitters
- c.*232T>C Multiple submitters
- c.*519G>A Multiple submitters
- p.Leu61= Multiple submitters
- c.180-138C>A Single submitter
- c.267-235G>A Single submitter
- c.61+21_61+34dup Single submitter
- c.62-171A>G Single submitter
- c.62-252G>C Single submitter
- c.62-258A>T Single submitter
- c.*87_*88dup Single submitter
- c.-27CCGC[5] No assertion criteria CXCL12-related disorder
Likely benign 6
- c.-27CCGC[4] Single submitter
- c.*817G>A Single submitter
- c.*881G>T Single submitter
- c.110-6A>G No assertion criteria CXCL12-related disorder
- c.*749C>T No assertion criteria CXCL12-related disorder
- c.*884A>G No assertion criteria CXCL12-related disorder
Uncertain significance 21
- c.*2C>T Single submitter susceptibility to HIV infection
- c.*757G>A Single submitter
- c.*793C>T Single submitter
- c.*801G>C Single submitter
- c.*825T>C Single submitter
- c.*829A>T Single submitter
- c.*847C>T Single submitter
- c.*861T>C Single submitter
- c.*879G>T Single submitter
- p.Ala15Val Single submitter ⚠
- p.Ala56Asp Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Glu36Gly Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Ile79Phe Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu18Pro Single submitter ⚠
- p.Leu18Val Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Thr52Ala Single submitter ⚠
- p.Val24Ile Single submitter ⚠